Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Casals
T
T
Molecular Genetics Department, Cancer Research Institute, Hospital Duran i Reynals, Barcelona, Spain.
Ramos
M D
MD
Giménez
J
J
Nadal
M
M
Nunes
V
V
Estivill
X
X
D019943:Amino Acid Substitution; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation
C505032:CFTR protein, human; C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA